Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Siyuan Linpeng"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Paternal uniparental disomy (UPD) of chromosome 7 is extremely rare, and only a few postnatal cases have been reported. The effects on growth were discordant in these cases, and the relevance of paternal UPD(7) to growth caused by imprint
Externí odkaz:
https://doaj.org/article/59a95c3d530b48d08721912969121f3b
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
The prenatal prevalence of isolated ventriculomegaly is 0.039%–0.087%. Most isolated mild ventriculomegaly (MV) fetuses (>90%) have a favorable prognosis. However, 5.6% to 7.9% of fetuses with isolated MV have adverse neurodevelopmental outcomes. I
Externí odkaz:
https://doaj.org/article/3c14ce0c4c094393b55590c00673467e
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-5 (2022)
Abstract Background Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At present, only four ca
Externí odkaz:
https://doaj.org/article/640e9bfef4f7421fab33662731689d9a
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
This study explored the diagnostic efficiency of different prenatal diagnostic approaches for women with positive non-invasive prenatal screening (NIPS) results by analyzing their clinical information and pregnancy outcomes. We collected data on 626
Externí odkaz:
https://doaj.org/article/df887346640a4f998a9657d7a0de886a
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In
Externí odkaz:
https://doaj.org/article/8acc24ff5c564330b7b5b4e366fcc9dc
Autor:
Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Charcot–Marie–Tooth (CMT) disease is a group of hereditary neuropathies with high phenotypic and genetic heterogeneity. In this study, we report a large family with X‐linked CMT (CMTX) caused by a novel GJB1 mutation. Method
Externí odkaz:
https://doaj.org/article/20af9813ddd74967910c999b89507544
Akademický článek
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Background: This study explores the diagnostic efficiency of different prenatal diagnostic approaches for women with positive non-invasive prenatal testing (NIPT) results by analyzing their clinical information and pregnancy outcome. Methods: We coll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46affe2326d26214c8a2e6a9d97dd1b6
https://doi.org/10.21203/rs.3.rs-1641089/v1
https://doi.org/10.21203/rs.3.rs-1641089/v1
Background: Tetrasomy 18p syndrome is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p.Most tetrasomy 18p cases are de novo cases,maternal origin trisomy 18p is a very rare condition.At present, only 4 cases of mat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7893ad6dcff327ea7bcd1fc4d5ffd215
https://doi.org/10.21203/rs.3.rs-1629060/v1
https://doi.org/10.21203/rs.3.rs-1629060/v1
Autor:
Zhengjun Jia, Siyuan Linpeng, Lingqian Wu, Yanling Teng, Weigang Lv, Zhuo Li, Desheng Liang, Huimin Zhu, David S. Cram, Dahua Meng, Aihua Yin
Publikováno v:
BJOG: An International Journal of Obstetrics & Gynaecology. 128:448-457
Objective To evaluate the clinical feasibility of noninvasive prenatal diagnosis (NIPD) for β-thalassaemia using circulating single molecule amplification and re-sequencing technology (cSMART). Design Through carrier screening, 102 pregnant Chinese